Neurological Sciences最新文献

{"title":"Hemorrhagic sellar lesion mimicking pituitary adenoma apoplexy: MRI follow-up suggesting Rathke cleft cyst.","authors":"Carlos Dier, Charif Sidani, Kevin J Abrams, Leonardo Furtado Freitas","doi":"10.1007/s10072-026-09460-z","DOIUrl":"10.1007/s10072-026-09460-z","url":null,"abstract":"<p><p>Rathke cleft cysts (RCCs) are benign epithelial sellar and suprasellar lesions arising from remnants of Rathke pouch. Although typically incidental and asymptomatic, intracystic hemorrhage is rare and may mimic pituitary adenoma apoplexy. We report a 19-year-old woman presenting with one week of progressive severe headache. CT demonstrated sellar enlargement with suprasellar extension. MRI showed a hemorrhagic sellar lesion centered in the pars intermedia/posterior pituitary with fluid-fluid levels, dependent T2 hypointense components, susceptibility-related signal loss, and suprasellar extension abutting the optic chiasm, without nodular enhancement. Neurologic, ophthalmologic, and endocrinologic evaluations were unremarkable. Conservative management with corticosteroids and observation was pursued. Follow-up MRI at 3 months demonstrated markedly decreased pituitary enlargement with evolution into a small residual nonenhancing pars intermedia cyst, suggesting a hemorrhagic RCC. Recognition of this rare entity may support conservative management and avoid surgery in clinically stable patients.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spontaneous cerebrospinal fluid fistula: an underrecognized manifestation of idiopathic intracranial hypertension.","authors":"Ruijiao Zhou, Hongbo Zheng, Xu Liu","doi":"10.1007/s10072-026-09454-x","DOIUrl":"10.1007/s10072-026-09454-x","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disease severity as the dominant clinic-available marker of myasthenic crisis occurrence: a single-centre retrospective study.","authors":"Robert Mîndreanu, Irina Matei, Teodora Stan, Simona Clichici, Dafin Mureșanu, Răzvan Cherecheș, Hanna Dragoș, Alina Blesneag, Delia Stanca, Adina Stan","doi":"10.1007/s10072-026-09448-9","DOIUrl":"https://doi.org/10.1007/s10072-026-09448-9","url":null,"abstract":"<p><strong>Introduction: </strong>Myasthenic crisis is the most feared acute complication of myasthenia gravis (MG), yet simple clinic-based approaches to risk stratification remain limited. We examined which routinely recorded clinical features were associated with crisis occurrence across the observed disease course and whether a parsimonious model could provide retrospective group-level stratification.</p><p><strong>Methods: </strong>This single-centre retrospective study included 86 adults with MG. Myasthenic crisis was defined as respiratory failure requiring mechanical ventilation. Disease severity was graded using the Myasthenia Gravis Foundation of America (MGFA) classification and grouped as mild, moderate or severe; MGFA class V was excluded to avoid circularity. Independent correlates were assessed by logistic regression and internally validated by cross-validation. The model was intended for retrospective group-level stratification, not prospective prediction of an individual future crisis.</p><p><strong>Results: </strong>Thirty-four patients (40%) had experienced a myasthenic crisis. Crisis frequency increased across severity groups: 11%, 26% and 73% in mild, moderate and severe disease, respectively (p < 0.001). Each severity grade increased the odds of crisis approximately seven-fold (OR 6.7, 95% CI 2.8-16.5), whereas more frequent outpatient visits were associated with lower odds (OR 0.73). The two-item model showed good discrimination (AUC 0.84; cross-validated AUC 0.79). Calibration-in-the-large was close to ideal, although the cross-validated calibration slope of 0.73 suggested moderate overfitting.</p><p><strong>Conclusions: </strong>MGFA severity was the dominant clinic-available marker of crisis occurrence. Outpatient-visit frequency contributed less stable information and should be considered exploratory. These findings support retrospective group-level stratification but do not establish prospective prediction or a protective effect of follow-up.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13633172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relieving pain with OnabotulinumtoxinA in refractory burning mouth syndrome: protocol and outcomes of an exploratory case series.","authors":"Leonardo Barbosa, Filipe Alves, Andreia Costa","doi":"10.1007/s10072-026-09439-w","DOIUrl":"10.1007/s10072-026-09439-w","url":null,"abstract":"<p><strong>Background: </strong>Burning mouth syndrome (BMS) is a chronic orofacial neuropathic pain disorder, occurring in the absence of clinically evident mucosal lesions or identifiable oral pathology that can explain the symptoms. A significant proportion of patients experience uncontrolled symptoms despite multiple therapies. OnabotulinumtoxinA (onaBoNT/A) is used in neuropathic pain, as clinical trials have shown benefits in peripheral and central neuropathic pain management with its application. We present an exploratory case series of four patients with refractory BMS treated with intradermal onaBoNT/A injections.</p><p><strong>Methods: </strong>Four patients with refractory BMS were included in this study. OnaBoNT/A intradermal injections were performed in the inner labial mucosae and tip of the tongue. We assessed pain intensity before the procedure and after 15 days, adverse effects, time to symptom recurrence, cumulative effects with multiple procedures, and patients' global impression of change.</p><p><strong>Results: </strong>All patients reported the procedure was quick and well tolerated. No immediate adverse effects were identified. All patients had significant pain reduction at 15-day follow-up assessment. Regarding adverse effects, one patient reported transient lower lip asymmetry in one procedure, and another reported transient mild mouth closure impairment. Symptoms recurred between 2.5 and 3.0 months after the first procedure. Three patients desired to continue the treatment. One patient reported no symptom recurrence after four procedures with three-month intervals; after four procedures, the treatments were suspended, and she remained asymptomatic until the end of follow-up. One patient reported incremental benefit from repeated procedures. All patients reported the treatment had a meaningful impact on their daily life.</p><p><strong>Conclusions: </strong>Our results suggest that intradermal onaBoNT/A injections may constitute an effective and durable treatment option for patients with BMS refractory to conventional therapies. Despite these favourable outcomes, adverse events were noted in procedures targeting the labial mucosa. In future applications, we aim to examine technical variations between sessions associated with and without adverse effects, to optimise safety and refine the technique.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk factors and clinical outcomes of cerebral edema in acute ischemic stroke: a prospective observational single-centre study.","authors":"Tommaso Baldini, Eleonora Matteo, Michele Romoli, Mauro Gentile, Stefano Forlivesi, Matteo Paolucci, Andrea Zini","doi":"10.1007/s10072-026-09433-2","DOIUrl":"https://doi.org/10.1007/s10072-026-09433-2","url":null,"abstract":"<p><strong>Background: </strong>Cerebral edema (CED) is a common complication of acute ischemic stroke, associated with increased mortality and poor functional outcomes. While infarct size is a known predictor, the role of sodium homeostasis remains unclear. This study evaluated risk factors for CED and its impact on outcomes.</p><p><strong>Methods: </strong>We prospectively enrolled 178 patients with acute non-lacunar ischemic stroke. Cerebral edema was assessed and graded using the SITS-MOST edema scale over the first seven days. Sodium concentration and variability were monitored daily. Risk factors for CED were identified through multivariate logistic regression, and the impact of CED on mortality, functional outcomes, hemorrhagic transformation, and seizures was analyzed.</p><p><strong>Results: </strong>CED occurred in 38.2% of patients and was associated with larger infarcts (> 3 cm), higher NIHSS, lower ASPECTS, lack of reperfusion, and multi-territory involvement. No differences were observed in demographics or cardiovascular risk factors. Sodium levels were higher on days 3 and 5 in CED patients, with greater variability, while baseline levels were not predictive. Infarct size and day 3 sodium were independent predictors. CED was linked to worse outcomes, including higher 1-month mortality (23.5% vs. 1.8%), increased hemorrhagic transformation, and reduced functional independence. No association with seizures was found.</p><p><strong>Conclusions: </strong>Infarct size remains the strongest risk factor for cerebral edema after ischemic stroke. Baseline sodium levels were not determining CED development. CED worsens outcomes but is not linked to seizure risk. These findings underscore the importance of early imaging and suggest a potential role for targeted anti-edema therapies in patients with larger strokes.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants.","authors":"Ozge Kamer Karalar Pekuz, Pelin Teke Kisa, Sevil Yildiz, Mehmet Kocabey, Tanyel Zubarioglu, Zumrut Arslan Gulten, Emine Sedef Sezen, Esra Er, Serdar Pekuz, Banu Kadioglu Yilmaz, Melis Kirmizitas, Meral Bahar Ister, Bahar Kulu, Filiz Hazan, Mustafa Kilic, Ozlem Unal Uzun, Ertugrul Kiykim, Halil Ibrahim Aydin, Sahin Erdol, Ayse Cigdem Aktuglu Zeybek, Nur Arslan","doi":"10.1007/s10072-026-09447-w","DOIUrl":"10.1007/s10072-026-09447-w","url":null,"abstract":"<p><p>Methylene tetrahydrofolate reductase (MTHFR) deficiency is a rare inherited metabolic disorder that impairs myelination and brain development, leading to primary clinical manifestations, particularly neurological deficits. The aim of this study was to comprehensively describe the clinical presentation, biochemical profile, and molecular spectrum of patients with MTHFR deficiency. This multicenter, retrospective, descriptive study evaluated the medical records of 19 patients diagnosed with MTHFR deficiency at ten metabolic disease centers. A total of 13 patients had early-onset disease. In the early-onset group, all patients had varying degrees of neurodevelopmental delay. The median diagnostic delay from the first symptom to diagnosis was 3 months in early-onset cases and 118 months in late-onset cases. MTHFR deficiency exhibits a broad clinical spectrum, with acute deterioration possible even in chronically affected patients. MTHFR deficiency should be considered among treatable neurometabolic disorders in patients with otherwise unexplained neurodevelopmental or neuropsychiatric manifestations, particularly when accompanied by additional neurological findings.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence, severity, and associated risk factors for amyloid-related imaging abnormalities in anti-amyloid monoclonal antibody therapy for early Alzheimer's disease: a systematic review and meta-analysis.","authors":"Markus A Martinez Holst, Ana Maria Sierra Valiente, Carlos A Garcia-Becerra","doi":"10.1007/s10072-026-09430-5","DOIUrl":"10.1007/s10072-026-09430-5","url":null,"abstract":"<p><strong>Background: </strong>Amyloid-related imaging abnormalities (ARIA) are the most concerning side effect of the treatment for early Alzheimer's disease (AD) with anti-amyloid monoclonal antibodies (mAbs).</p><p><strong>Objective: </strong>This study systematically evaluates the incidence, severity, and associated risk factors of ARIA in patients with early AD receiving anti-amyloid mAbs therapy.</p><p><strong>Methods: </strong>A comprehensive systematic review and meta-analysis were conducted following PRISMA guidelines. Assessed outcomes included ARIA incidence, symptomatic cases and severity, radiographic severity, and risk factors. Pooled incidences and odds ratios were estimated with a random effects model using the R software (version 4.5.2).</p><p><strong>Results: </strong>The systematic search yielded a total of 20 articles, representing 21 phase 3 randomized controlled trials that involved 12,610 AD patients. Pooled incidence was 5.4% for ARIA-E and 10.27% for ARIA-H. Most cases being asymptomatic and radiographically mild to moderate. Risk factor analysis revealed that ApoE 4 homozygotes carriers (OR = 5.12), ApoE 4 heterozygotes carriers (OR = 1.91), higher mAb dosage (OR = 2.0) and baseline microhemorrhages (OR = 1.43) had a major influence on ARIA-E occurrence, as for ARIA-H incidence was higher in ApoE 4 heterozygous (OR = 1.65) and homozygotes carriers (OR = 4.65). Moreover, ApoE 4 heterozygous and homozygotic carriers were associated with symptomatic (OR = 1.52;3.68) and severe radiographic (OR = 2.11;6.31) ARIA-E.</p><p><strong>Discussion: </strong>ARIA remains a significant safety concern in anti-amyloid mAb therapy, with incidence and severity influenced by genetic, neuroimaging, and treatment-related factors. Future research should focus on refining risk stratification and understanding long-term consequences of ARIA.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebrospinal fluid shunting for idiopathic normal pressure hydrocephalus: a comprehensive meta‑analysis with trial sequential analysis of randomized controlled trials.","authors":"Mohammed Altaha, Ayat Jassim Al Eid, Hoor Hussain Aloraidh, Zahraa Aqeel Alshakhs, Alanoud Salah Almukhaylid, Fatimah Sami Albatih, Joud Abdulaziz Abusharifah, Mohammed Buhulaigah, Lamees A Alhajri, Mohammed Alturki, Maryam Sami A Bujulaya, Majid Aljoghaiman","doi":"10.1007/s10072-026-09424-3","DOIUrl":"10.1007/s10072-026-09424-3","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Idiopathic normal pressure hydrocephalus (iNPH) is a potentially reversible neurocognitive disorder causing severe functional decline in the elderly. Cerebrospinal fluid (CSF) shunting aims to relieve ventricular stress and restore perfusion; however, high-quality placebo-controlled evidence has historically been limited.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This PRISMA-compliant systematic review and meta-analysis (PROSPERO: CRD420261372290) evaluated adults aged 60 years or older with iNPH. We included randomized controlled trials (RCTs) comparing immediate active CSF shunting against placebo or no shunting. The primary outcome was the change in gait speed using standardized timed assessments. Data were pooled using a restricted maximum-likelihood random-effects model, supplemented by Trial Sequential Analysis (TSA) and GRADE assessment to control for random error.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Four RCTs comprising 224 patients were included. Shunting significantly improved the primary outcome of gait velocity (SMD 0.73, 95% CI 0.45 to 1.01; P &lt; 0.0001). Significant secondary improvements were observed in qualitative gait function (SMD 0.81, P = 0.007), functional independence (OR 3.92, P &lt; 0.0001), continuous modified Rankin Scale reduction (MD - 0.73, P &lt; 0.0001), Mini-Mental State Examination or Montreal Cognitive Assessment scores (SMD 0.37, P = 0.009), and Symbol Digit Test performance (SMD 0.47, P = 0.002). TSA confirmed conclusive evidence for functional disability reduction before reaching the required information size. Shunting increased the incidence of positional headaches (OR 5.62, 95% CI 1.16 to 27.18). The pooled estimate for subdural hematoma was imprecise and did not reach statistical significance (OR 4.07, 95% CI 0.62 to 26.94) and should not be interpreted as evidence of an absence of risk given the small number of events. No significant difference was observed for ischemic stroke (OR 0.64, 95% CI 0.18 to 2.33), also based on few events.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Cerebrospinal fluid shunting appears to provide meaningful clinical benefit in patients with idiopathic normal pressure hydrocephalus, particularly through improvement in gait velocity and functional independence. However, the evidence suggests a more limited or uncertain effect on cognitive and urinary symptoms. Importantly, the available randomized evidence is too imprecise to rule out an increase in major complications such as surgically treated subdural hematoma; positional headaches were significantly more frequent with shunting, and the largest included trial independently reported a significant excess of subdural bleeding. These safety signals warrant careful discussion with patients considering shunt surgery. These findings support shunting as an effective therapeutic option for appropriately selected patients with iNPH, while emphasizing the need for careful patient selection, standardized outcome assessment, and further ","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial prrt2-negative paroxysmal kinesigenic dyskinesia mimicking frontal lobe epilepsy: a video-eeg/polygraphic documentation.","authors":"Marco Castelli, Elisa Compierchio, Maura Pugliatti, Danilo Fogli, Giuseppe d'Orsi","doi":"10.1007/s10072-026-09451-0","DOIUrl":"10.1007/s10072-026-09451-0","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tetrabenazine-induced Pisa syndrome in spinocerebellar ataxia type 2: a case report.","authors":"Francesco D'Angela, Giovanni Defazio","doi":"10.1007/s10072-026-09436-z","DOIUrl":"10.1007/s10072-026-09436-z","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}